ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108430
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9383
ClinVar RCV Id:
RCV000009981
RCV000058743
RCV000197520
RCV000183102
RCV000246596
RCV001841234
RCV002504774
RCV004554591
RCV004017232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ser1710Leu
CA018910
NM_198056.3:c.5129C>T