ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830097565
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
258213
ClinVar RCV Id:
RCV000254258
RCV000894899
RCV000988827
RCV003320624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Arg481Leu
CA6535432
NM_033150.3:c.1442G>T