ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098683
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17131
ClinVar RCV Id:
RCV000018669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001845.3:p.Gly625Val
CA281694
NM_001854.4:c.1874G>T