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: PA2828125434

Gene: SPAST HGNC NCBI

Linked Data

ClinVar Variation Id: 1344056

ClinVar RCV Id: RCV001848159

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350804.1:p.Glu530_Leu531insThrLysThr	CA2573051940 NM_001363875.2:c.1590_1591insACTAAAACC