ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA329834
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67684
ClinVar RCV Id:
RCV000058448
RCV000455370
RCV000987223
RCV003486631
RCV003541010
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ala572Val
CA015275
NM_198056.3:c.1715C>T