ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825494216
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9391
ClinVar RCV Id:
RCV000009989
RCV000058488
RCV003654175
RCV003591627
RCV003996084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala735Val
CA015951
NM_001099405.2:c.2204C>T