ClinGen Allele Registry
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Canonical Allele Identifier:
PA916056897
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291544
ClinVar RCV Id:
RCV000287951
RCV000403940
RCV001660560
RCV002278329
RCV004525918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Tyr233Cys
CA975345
NM_080630.4:c.698A>G