ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829864904
Gene: CABP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057450.2:p.Cys100Phe
CA6142507
NM_016366.3:c.299G>T