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: PA2825738143

Gene: SYNGAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985418

ClinVar RCV Id: RCV001266312

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123538.1:p.Pro605Arg	CA363693594 NM_001130066.2:c.1814C>G