ClinGen Allele Registry
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Canonical Allele Identifier:
PA318034
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189176
RCV000524506
RCV000622944
RCV001250742
RCV001847844
RCV002319456
ClinVar Variation:
207024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Ala1773Thr
CA318033
NM_001040142.2:c.5317G>A