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: PA658807712

Gene: SPATA31F1 HGNC NCBI

Linked Data

ClinVar Variation Id: 498818

ClinVar RCV Id: RCV000598269

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135389.1:p.Glu473Asp	CA5037377 NM_001141917.2:c.1419G>T CA373298959 NM_001141917.2:c.1419G>C