This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ser1063Arg
CA400200660
NM_000088.4:c.3189T>G
CA400200671
NM_000088.4:c.3189T>A
CA400200685
NM_000088.4:c.3187A>C