ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825944417
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058541
RCV000171570
RCV000766794
RCV001145179
RCV001145180
RCV001145181
RCV001145182
RCV001147136
RCV001842324
RCV003149712
RCV004019046
ClinVar Variation:
67771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153633.1:p.Ala997Thr
CA016710
NM_001160161.2:c.2989G>A