ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250687
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018924
ClinVar Variation:
17381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly1104Arg
CA250686
NM_033150.3:c.3310G>C