ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA127159
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17368
ClinVar RCV Id:
RCV000018912
RCV001385337
RCV000988828
RCV003323361
RCV003228897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Arg206Cys
CA127158
NM_033150.3:c.616C>T