ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825131066
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1973401
ClinVar RCV Id:
RCV003658100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Tyr1247Phe
CA352149202
NM_000335.5:c.3740A>T