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: PA2499275774

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040150

ClinVar RCV Id: RCV001343744 RCV002547423

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_009102.4:p.Gly398Glu