Canonical Allele Identifier: PA2741810478
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2575567
ClinVar RCV Id: RCV003321133

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu1397Lys
CA400191690
NM_000088.4:c.4189G>A