ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741872201
Gene: CNTNAP5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003979127
ClinVar Variation:
3056463
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354427.1:p.Ser453Leu
CA1855846
NM_001367498.1:c.1358C>T