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: PA2828125276

Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 5658

ClinVar RCV Id: RCV000006012

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350804.1:p.Cys415Tyr	CA253548 NM_001363875.2:c.1244G>A