ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139751466
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
924135
ClinVar RCV Id:
RCV001843250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg34Gly
CA352158911
NM_198056.3:c.100C>G