ClinGen Allele Registry
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Canonical Allele Identifier:
PA645416420
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_001835.3:p.Arg550Leu
CA6535432
NM_001844.5:c.1649G>T