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: PA2825446955

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476557

ClinVar RCV Id: RCV001998158

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070834.1:p.Ala441Glu	CA375312154 NM_001077366.2:c.1322C>A