ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239031
Gene: CABP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193500
ClinVar RCV Id:
RCV000173573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_660201.1:p.Gly63Ser
CA239030
NM_145200.5:c.187G>A