ClinGen Allele Registry
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Canonical Allele Identifier:
PA211820
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
78805
ClinVar RCV:
RCV000058693
RCV000148850
RCV000183081
RCV000987201
RCV001725963
RCV001842367
RCV002336211
ClinVar Variation:
67912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Val1531Ile
CA018450
NM_000335.5:c.4591G>A