ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416351
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308926
ClinVar RCV Id:
RCV000312447
RCV000349004
RCV001764277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Val500Ile
CA6535468
NM_001844.5:c.1498G>A