ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830121691
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1352192
ClinVar RCV Id:
RCV002049409
RCV002545717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Pro762Arg
CA974350
NM_080630.4:c.2285C>G