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: PA2828536408

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040150

ClinVar RCV Id: RCV001343744 RCV002547423

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361619.1:p.Gly376Glu	CA5293545 NM_001374690.1:c.1127G>A