ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139752489
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
850004
ClinVar RCV Id:
RCV001054084
RCV001842601
RCV002481984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ser106Gly
CA352157035
NM_198056.3:c.316A>G