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: PA2828472831

Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1445847

ClinVar RCV Id: RCV001958358

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358175.1:p.Met1609Ile	CA349037495 NM_001371246.1:c.4827G>A CA349037496 NM_001371246.1:c.4827G>C CA349037497 NM_001371246.1:c.4827G>T