Canonical Allele Identifier: PA891844584
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly227Arg
CA400224626
NM_000088.4:c.679G>C
CA400224628
NM_000088.4:c.679G>A