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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:
CA2092048041
Gene: OLFM4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.53051581A= , CM000675.2:g.53051581A=
GRCh38
NC_000013.10:g.53625716A= , CM000675.1:g.53625716A=
GRCh37
NC_000013.9:g.52523717A=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000219022.3:c.*810A=
MANE Select
ENSP00000219022.2:n.*810A=
ENST00000219022.2:c.*810A=
ENSP00000219022.2:n.*810A=
NM_006418.4:c.*810A=
NP_006409.3:n.*810A=
NM_006418.5:c.*810A=
MANE Select
NP_006409.3:n.*810A=
Search 100 bp 5'
Search 100 bp 3'