ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580555533
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1992327
ClinVar RCV Id:
RCV002776543
RCV003591972
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Val1597Ala
CA72942393
NM_198056.3:c.4790T>C