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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:
CA2259745984
Gene: KRT12
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40867161G= , CM000679.2:g.40867161G=
GRCh38
NC_000017.10:g.39023413G= , CM000679.1:g.39023413G=
GRCh37
NC_000017.9:g.36276939G=
NCBI36
NG_008077.1:g.5050C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000251643.5:c.26C=
MANE Select
ENSP00000251643.4:p.Ser9=
ENST00000647902.1:c.26C=
ENSP00000497770.1:p.Ser9=
ENST00000251643.4:c.26C=
ENSP00000251643.4:p.Ser9=
NM_000223.3:c.26C=
NP_000214.1:p.Ser9=
XR_934754.1:n.1500+16301G=
XR_934754.2:n.2008+16301G=
NM_000223.4:c.26C=
MANE Select
NP_000214.1:p.Ser9=
Search 100 bp 5'
Search 100 bp 3'