ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825492902
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009988
RCV000058390
RCV001841237
RCV002426498
RCV003654174
ClinVar Variation:
9390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Arg367His
CA014314
NM_001099405.2:c.1100G>A