Canonical Allele Identifier: PA2580104355
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428514

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ile1398Val
CA400191675
NM_000088.4:c.4192A>G