ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098281
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018928
RCV000190574
RCV001299254
ClinVar Variation:
17385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Thr1439Met
CA204551
NM_001844.5:c.4316C>T