ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499294798
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003699
ClinVar RCV Id:
RCV001300288
RCV001332047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Val985Ile
CA236521162
NM_033150.3:c.2953G>A