ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108100
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058830
RCV000114993
RCV003539788
ClinVar Variation:
68030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Leu212Pro
CA019675
NM_198056.3:c.635T>C