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: PA2573062291

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 1314837

ClinVar RCV Id: RCV001765878

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Met1477Thr	CA400616040 NM_000334.4:c.4430T>C