ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830169862
Gene: CNTNAP5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_570129.1:p.Ser452Leu
CA1855846
NM_130773.4:c.1355C>T