ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098071
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002509165
ClinVar Variation:
17378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly492Val
CA250684
NM_001844.5:c.1475G>T