ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314125
Gene: CNTNAP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000262722
RCV000300962
RCV000715807
RCV001721191
RCV003967469
ClinVar Variation:
205245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054860.1:p.Glu494Lys
CA314124
NM_014141.6:c.1480G>A