ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830378833
Gene: CNTN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_778203.1:p.Ala416Gly
CA6516829
NM_175038.2:c.1247C>G