ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416620
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374042
ClinVar RCV Id:
RCV000415214
RCV001196261
RCV002524665
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly1008Val
CA16043471
NM_001844.5:c.3023G>T