Canonical Allele Identifier: PA2499227946
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1074717
ClinVar RCV Id: RCV001388124

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly335Ser
CA400221101
NM_000088.4:c.1003G>A