ClinGen Allele Registry
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Canonical Allele Identifier:
PA913196202
Gene: SCN4A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
613096
ClinVar RCV:
RCV000761999
RCV001807649
ClinVar Variation:
623937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Leu689Phe
CA400631288
NM_000334.4:c.2065C>T