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: PA2828536028

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180799

ClinVar RCV Id: RCV002619443

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361618.1:p.Gly619Arg	CA375314251 NM_001374689.1:c.1855G>C