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: PA2825737811

Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375527

ClinVar RCV Id: RCV000416992

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123538.1:p.Ala195Pro	CA16044320 NM_001130066.2:c.583G>C