ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580184229
Gene: CABP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305425.1:p.Arg222Gln
CA6142343
NM_001318496.2:c.665G>A