Canonical Allele Identifier: PA658669062
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 456803
ClinVar RCV Id: RCV000757107 RCV003338649 RCV002231006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Val416Ile
CA4346961
NM_000089.4:c.1246G>A