ClinGen Allele Registry
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Canonical Allele Identifier:
PA281696
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_001177638.1:p.Gly586Val
CA281694
NM_001190709.2:c.1757G>T