ClinGen Allele Registry
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Canonical Allele Identifier:
PA117555
Gene: CNTNAP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005828
RCV000711329
RCV001088251
RCV002426491
ClinVar Variation:
5493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054860.1:p.Ile869Thr
CA117554
NM_014141.6:c.2606T>C