ClinGen Allele Registry
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Canonical Allele Identifier:
PA658807475
Gene: CNTNAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536328
ClinVar RCV Id:
RCV000644726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054860.1:p.Gln392Leu
CA369924639
NM_014141.6:c.1175A>T