ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827923136
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67842
ClinVar RCV Id:
RCV000058621
RCV000183053
RCV000509258
RCV000589022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ala1329Thr
CA017699
NM_001354701.2:c.3985G>A