ClinGen Allele Registry
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Canonical Allele Identifier:
PA147294
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079725
RCV000342882
RCV000406531
RCV001512353
ClinVar Variation:
93788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Thr9Ser
CA147293
NM_001844.5:c.25A>T