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: PA2828761557

Gene: SP110 HGNC NCBI

Linked Data

ClinVar Variation Id: 334902

ClinVar RCV Id: RCV000362881 RCV000455391

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365376.1:p.Met473Thr	CA2154463 NM_001378447.1:c.1418T>C