ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825495182
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001508493
RCV001841079
RCV001876214
RCV002480629
ClinVar Variation:
926646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ser1103Phe
CA061598
NM_001099405.2:c.3308C>T