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: PA2828538138

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954786

ClinVar RCV Id: RCV001227308 RCV003482348

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361622.1:p.Tyr567His	CA200798287 NM_001374693.1:c.1699T>C