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: COL5A2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000384.2:p.Met997Ile
CA349867020
NM_000393.5:c.2991G>T
CA349867023
NM_000393.5:c.2991G>C
CA349867025
NM_000393.5:c.2991G>A