Canonical Allele Identifier: PA645452418
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 225320
ClinVar RCV Id: RCV000490355 RCV001127361 RCV001126949 RCV001127360 RCV002298529 RCV002347820 RCV003319187 RCV000877791 RCV002277572 RCV003324521
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala1256Thr
CA8644359
NM_000088.4:c.3766G>A