ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573100984
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305091
ClinVar RCV Id:
RCV001773801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Tyr1241Cys
CA352149290
NM_198056.3:c.3722A>G