ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658662134
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449001
ClinVar RCV Id:
RCV000518971
RCV001254635
RCV002506265
RCV001814182
RCV001027723
RCV003403225
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ala302Val
CA384521889
NM_001844.5:c.905C>T