ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825945942
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058822
RCV001145569
RCV001145570
RCV001145571
RCV001145572
RCV001145573
RCV001149903
RCV001842402
RCV003654194
ClinVar Variation:
68022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Phe1950Val
CA019582
NM_001160161.2:c.5848T>G