ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453477
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000281591
RCV000336729
RCV000371513
RCV000377274
RCV000518648
RCV000654664
RCV003137928
ClinVar Variation:
324534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Met855Val
CA8709564
NM_000334.4:c.2563A>G