Canonical Allele Identifier: PA202075
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196007
ClinVar RCV Id: RCV000176717 RCV000265657 RCV000357800 RCV000323067 RCV000556050 RCV001087529 RCV002277381 RCV002408766 RCV004552984
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ala625Thr
CA202073
NM_000088.4:c.1873G>A