ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120326
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9377
ClinVar RCV Id:
RCV000009974
RCV000009972
RCV000009973
RCV000058773
RCV000208193
RCV000183117
RCV000245905
RCV000588022
RCV000824758
RCV004545722
RCV003591625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Glu1783Lys
CA019148
NM_000335.5:c.5347G>A