ClinGen Allele Registry
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Canonical Allele Identifier:
PA318019
Gene: SCN2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189171
RCV000536734
RCV001004719
RCV001265265
RCV001847843
RCV002247610
RCV002514055
RCV003155929
ClinVar Variation:
207019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Arg1629His
CA318018
NM_001040142.2:c.4886G>A