ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829346364
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291537
ClinVar RCV Id:
RCV000282658
RCV000337630
RCV001859738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Thr394Ala
CA975103
NM_001854.4:c.1180A>G