Canonical Allele Identifier: PA658827345
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547227

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu486Lys
CA400217610
NM_000088.4:c.1456G>A