ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307553
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201497
ClinVar RCV Id:
RCV000183039
RCV000239165
RCV001842918
RCV002453661
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Arg1193Trp
CA017280
NM_198056.3:c.3577C>T