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: PA2830311570

Gene: SIGMAR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 465871

ClinVar RCV Id: RCV000531796 RCV001722482 RCV001662556

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_671513.1:p.Arg177Trp	CA5035823 NM_147157.3:c.529C>T