Canonical Allele Identifier: PA891844597
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17345
ClinVar RCV Id: RCV000018886

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu615_Ala616delinsAsp
CA291544416
NM_000088.4:c.1845_1847del