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: PA2825738141

Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055027

ClinVar RCV Id: RCV001363628

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123538.1:p.Ser604Leu	CA363693573 NM_001130066.2:c.1811C>T