ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573302176
Gene: CABP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346543
ClinVar RCV Id:
RCV002030070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660201.1:p.Ala83Thr
CA6140111
NM_145200.5:c.247G>A