ClinGen Allele Registry
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Canonical Allele Identifier:
PA108531
Gene: SCN5A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000058715
RCV000144031
RCV001836727
RCV001842371
RCV002477202
ClinVar Variation:
67932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Thr1620Met
CA018653
NM_198056.3:c.4859C>T
CA085295
NM_198056.3:c.[4859C>T;3694C>T]