ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453351
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
324546
ClinVar RCV Id:
RCV000288041
RCV000291434
RCV000345383
RCV000348654
RCV000383669
RCV000945786
RCV001288735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Glu374Lys
CA8709918
NM_000334.4:c.1120G>A