ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827921216
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041594
RCV000058380
RCV000244721
RCV000263131
RCV000277696
RCV000318270
RCV000357684
RCV000372880
RCV001094908
RCV001841583
ClinVar Variation:
48279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Arg34Cys
CA014158
NM_001354701.2:c.100C>T