Canonical Allele Identifier: PA2573161331
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1678538
ClinVar RCV Id: RCV002225061

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly467Arg
CA400218366
NM_000088.4:c.1399G>C
CA400218368
NM_000088.4:c.1399G>A