ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139758695
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
925641
ClinVar RCV Id:
RCV001841009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Pro564Ser
CA352146692
NM_198056.3:c.1690C>T