ClinGen Allele Registry
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Canonical Allele Identifier:
PA107590
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058405
RCV000058406
RCV000182963
RCV001256848
RCV004545744
ClinVar Variation:
67648
67649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Asn406Lys
CA014532
NM_198056.3:c.1218C>A
CA014540
NM_198056.3:c.1218C>G