ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307331
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201461
ClinVar RCV Id:
RCV000182985
RCV000252061
RCV001729437
RCV001842903
RCV002478621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Gly607Val
CA015393
NM_000335.5:c.1820G>T