ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307139
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68004
ClinVar RCV Id:
RCV000058798
RCV000157477
RCV000766778
RCV001842390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg190Gly
CA019420
NM_198056.3:c.568C>G