ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580368794
Gene: CNTNAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1755733
ClinVar RCV Id:
RCV002362066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054860.1:p.Val411Ile
CA369924760
NM_014141.6:c.1231G>A