ClinGen Allele Registry
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Canonical Allele Identifier:
PA645416508
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414483
ClinVar Variation:
373012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Lys803del
CA16042883
NM_001844.5:c.2407_2409del