ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658810706
Gene: CNTNAP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003623.1:p.Arg388Pro
NM_003632.3:c.1163G>C