ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314101
Gene: CNTNAP2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_054860.1:p.Ser382Asn
NM_014141.6:c.1145G>A