ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA308017
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201578
ClinVar RCV Id:
RCV002223191
RCV003996820
RCV003165397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Asp651His
CA015631
NM_198056.3:c.1951G>C