ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830098962
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93790
ClinVar RCV Id:
RCV000079727
RCV000378068
RCV000283561
RCV003242977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Gly1286Asp
CA221742
NM_033150.3:c.3857G>A