ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825963006
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451783
ClinVar RCV Id:
RCV000521843
RCV000678343
RCV003960237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001157243.1:p.Leu196Pro
CA3751631
NM_001163771.2:c.587T>C