ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830098444
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015924
ClinVar RCV Id:
RCV001314855
RCV003284177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Asp1018His
CA384540046
NM_033150.3:c.3052G>C