ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762937
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923948
ClinVar RCV Id:
RCV001843232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Thr1895Ile
CA064606
NM_198056.3:c.5684C>T