ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108323
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9394
ClinVar RCV Id:
RCV000009994
RCV000058612
RCV001841240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Pro1298Leu
CA017599
NM_198056.3:c.3893C>T