ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915960933
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
649218
ClinVar RCV Id:
RCV000804101
RCV003141804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Met1493Val
CA400615945
NM_000334.4:c.4477A>G