ClinGen Allele Registry
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Canonical Allele Identifier:
PA254774
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
24421
ClinVar RCV:
RCV000009979
RCV000009980
RCV001530164
ClinVar Variation:
9382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Tyr1794_Glu1795insAsp
CA025554
NM_000335.5:c.5382_5384dup