ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830129034
Gene: COL11A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
191960
ClinVar RCV:
RCV000175243
RCV001151604
RCV001151605
RCV001154613
RCV002516668
ClinVar Variation:
194797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Arg439Gln
CA240966
NM_080679.3:c.1316G>A