Canonical Allele Identifier: PA658668632
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447137
ClinVar RCV Id: RCV000518629 RCV003517215
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly374Ala
CA400219747
NM_000088.4:c.1121G>C