ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499259093
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001385336
ClinVar Variation:
1072583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly381Asp
CA384554627
NM_001844.5:c.1142G>A