ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453310
Gene: SCN4A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000498780
RCV000512650
RCV001237631
ClinVar Variation:
432742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000325.4:p.Ile215Thr
CA400638301
NM_000334.4:c.644T>C