ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825254164
Gene: CBY1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161693
ClinVar RCV Id:
RCV000149229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001002880.3:p.Leu116Val
CA021476
NM_001002880.4:c.346C>G