Canonical Allele Identifier: PA210745
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17250
ClinVar RCV Id: RCV000018790 RCV000413739 RCV000680486 RCV001200183 RCV001162671 RCV001330774 RCV001162670 RCV002415422 RCV002228038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Arg708Gln
CA210743
NM_000089.4:c.2123G>A