ClinGen Allele Registry
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Canonical Allele Identifier:
PA097790
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018910
RCV000478360
RCV000762895
RCV000995718
ClinVar Variation:
17366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Arg989Cys
CA250676
NM_001844.5:c.2965C>T