Canonical Allele Identifier: PA658804288
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521008
ClinVar RCV Id: RCV000623717 RCV001823152 RCV002232602 RCV002289909 RCV003314628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Gly526Arg
CA162926587
NM_000089.4:c.1576G>A
CA368222137
NM_000089.4:c.1576G>C