Canonical Allele Identifier: PA2573161468
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1488712

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1410Ile
CA8644223
NM_000088.4:c.4228G>A