ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825132017
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1006492
ClinVar RCV Id:
RCV003656815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000326.2:p.Ala1639Thr
CA72938309
NM_000335.5:c.4915G>A