ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107387
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058725
RCV002336215
RCV003541168
RCV003996547
ClinVar Variation:
67941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg1644Cys
CA018754
NM_198056.3:c.4930C>T