ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826161249
Gene: COL11A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291546
ClinVar RCV Id:
RCV000324984
RCV000384258
RCV001859739
RCV003258737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177638.1:p.Ile210Val
CA975398
NM_001190709.2:c.628A>G