ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923148
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058626
RCV000183057
RCV000456774
RCV004017378
ClinVar Variation:
67847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ile1333Val
CA017738
NM_001354701.2:c.3997A>G