ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA307611
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058626
RCV000183057
RCV000456774
RCV004017378
ClinVar Variation:
67847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932173.1:p.Ile1334Val
CA017738
NM_198056.3:c.4000A>G