ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA108658
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_932173.1:p.Val1763Met
CA019062
NM_198056.3:c.5287G>A