ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA218952
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68020
ClinVar RCV Id:
RCV000058819
RCV000987193
RCV001143897
RCV001150020
RCV001143896
RCV001150018
RCV001150019
RCV001842400
RCV003317073
RCV002354253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu1988Arg
CA019559
NM_198056.3:c.5963T>G