ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830121697
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1300948
ClinVar RCV Id:
RCV001733091
RCV002508964
RCV004040036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542197.3:p.Arg766Cys
CA974348
NM_080630.4:c.2296C>T