ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827923340
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201516
ClinVar RCV Id:
RCV000183076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Gln1456Leu
CA018253
NM_001354701.2:c.4367A>T