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: PA2828536407

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285055

ClinVar RCV Id: RCV000338793 RCV000376051 RCV000530614 RCV004535339

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Gly376Arg	CA5293544 NM_001374690.1:c.1126G>A CA375309062 NM_001374690.1:c.1126G>C