Canonical Allele Identifier: PA645452302
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 324102
ClinVar RCV Id: RCV000259210 RCV000319126 RCV000355446 RCV000695671 RCV000521091 RCV000765369 RCV002323528 RCV002278491
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Val1078Ala
CA8644518
NM_000088.4:c.3233T>C