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: PA2825737889

Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 391294

ClinVar RCV Id: RCV000433653

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123538.1:p.Trp308Arg	CA16605532 NM_001130066.2:c.922T>C CA363685104 NM_001130066.2:c.922T>A