Canonical Allele Identifier: PA645451965
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418140
ClinVar RCV Id: RCV000659352 RCV001125674 RCV001125673 RCV001125672 RCV002279235 RCV001508818 RCV002413314
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Arg564His
CA8645135
NM_000088.4:c.1691G>A