ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139751474
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
936508
ClinVar RCV Id:
RCV003591847
RCV002451432
RCV003656465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Thr38Ile
CA352158800
NM_198056.3:c.113C>T