ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249886
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9406
ClinVar RCV Id:
RCV000010009
RCV000058706
RCV001258074
RCV003156212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Asp1595His
CA018558
NM_198056.3:c.4783G>C