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: PA891845960

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 580039

ClinVar RCV Id: RCV000703468 RCV001771997 RCV002507231

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Thr1445Met	CA8708992 NM_000334.4:c.4334C>T