Allele Registry

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.

Canonical Allele Identifier: PA2827716036

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471377

ClinVar RCV Id: RCV000551846

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Gly462Ser	CA5293707 NM_001353198.2:c.1384G>A