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: PA2825446034

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2180799

ClinVar RCV Id: RCV002619443

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070833.1:p.Gly623Arg	CA375314251 NM_001077365.2:c.1867G>C