ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA261122
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
39444
ClinVar RCV Id:
RCV000032639
RCV000058833
RCV000211852
RCV000182941
RCV000678965
RCV000763109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg222Gln
CA019704
NM_198056.3:c.665G>A