Canonical Allele Identifier: PA2573161359
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1444331
ClinVar RCV Id: RCV001982349

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Glu633Lys
CA400213852
NM_000088.4:c.1897G>A