ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825940890
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48293
ClinVar RCV Id:
RCV000041608
RCV000058469
RCV001147414
RCV001147416
RCV001147413
RCV001147415
RCV001147411
RCV001147412
RCV004541213
RCV001841597
RCV004017337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Pro656Leu
CA015659
NM_001160160.2:c.1967C>T