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: PA2827717017

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1395773

ClinVar RCV Id: RCV001887254

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001340129.1:p.Phe293Leu