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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2184198265
Gene: SMAD6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.66703295C= , CM000677.2:g.66703295C=
GRCh38
NC_000015.9:g.66995633C= , CM000677.1:g.66995633C=
GRCh37
NC_000015.8:g.64782687C=
NCBI36
NG_012244.1:g.5960C=
NG_012244.2:g.5960C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000288840.10:c.37C=
MANE Select
ENSP00000288840.5:p.Leu13=
ENST00000288840.9:c.37C=
ENSP00000288840.5:p.Leu13=
ENST00000557916.5:c.37C=
ENSP00000452955.1:p.Leu13=
ENST00000612349.1:n.219C=
NM_005585.4:c.37C=
NP_005576.3:p.Leu13=
NR_027654.1:n.960C=
XR_931825.1:n.1196C=
XR_931826.1:n.1196C=
XR_931827.1:n.1196C=
XR_931827.2:n.1186C=
NM_005585.5:c.37C=
MANE Select
NP_005576.3:p.Leu13=
NR_027654.2:n.1060C=
Search 100 bp 5'
Search 100 bp 3'