ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314250
Gene: CNTNAP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054860.1:p.Ile172Thr
CA314249
NM_014141.6:c.515T>C