ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825493549
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67684
ClinVar RCV Id:
RCV000058448
RCV000455370
RCV000987223
RCV003486631
RCV003541010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092875.1:p.Ala572Val
CA015275
NM_001099405.2:c.1715C>T