ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825942521
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67974
ClinVar RCV Id:
RCV000058760
RCV000183112
RCV001787862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001153632.1:p.Val1730Met
CA019062
NM_001160160.2:c.5188G>A