ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658809938
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520459
ClinVar RCV Id:
RCV000624731
RCV002343173
RCV002466547
RCV004002746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Met1875dup
CA542615522
NM_198056.3:c.5623_5625dup