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: PA2828536462

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 452467

ClinVar RCV Id: RCV000519422 RCV001853681

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Arg444His	CA5293659 NM_001374690.1:c.1331G>A