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: PA2828113329

Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 730646

ClinVar RCV Id: RCV000905478

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.His1801Tyr	CA375076540 NM_001363765.2:c.5401C>T