ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA330135
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67925
ClinVar RCV Id:
RCV000058708
RCV003541166
RCV003509486
RCV002504974
RCV003996545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Val1596Met
CA018571
NM_000335.5:c.4786G>A