ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827924017
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000041630
RCV000058802
RCV000148839
RCV000234983
RCV000620507
RCV000987195
RCV001841613
ClinVar Variation:
48310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ser1885Leu
CA019439
NM_001354701.2:c.5654C>T