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: PA2828537677

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289094

ClinVar RCV Id: RCV000271428

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361621.1:p.Lys598Gln	CA10606325 NM_001374692.1:c.1792A>C