ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107478
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058851
RCV000144028
RCV001552667
RCV002444522
RCV003591675
ClinVar Variation:
68048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg282His
CA019849
NM_198056.3:c.845G>A