ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174609
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_056188.1:p.Leu116Val
CA021476
NM_015373.4:c.346C>G