Canonical Allele Identifier: PA658668733
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450185
ClinVar RCV Id: RCV000521165 RCV002329239 RCV000765368 RCV000792484
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg1399His
CA8644235
NM_000088.4:c.4196G>A