Canonical Allele Identifier: PA098457
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265387
ClinVar RCV Id: RCV000255575 RCV000490744 RCV002229832 RCV001526511
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000080.2:p.Gly193Ser
CA4346716
NM_000089.4:c.577G>A