ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453461
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000414860
RCV001070785
RCV001566689
ClinVar Variation:
374058
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ala699Thr
CA16043536
NM_000334.4:c.2095G>A