ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825131196
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917997
ClinVar RCV Id:
RCV001175242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Arg1305Ser
CA352148145
NM_000335.5:c.3913C>A