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: PA2827714090

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283451

ClinVar RCV Id: RCV000332052 RCV000648159 RCV000725271 RCV004021137

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340124.1:p.Arg173Trp	CA10604495 NM_001353195.2:c.517C>T