ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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: COL4A1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001836.3:p.Leu1246Val
CA388662223
NM_001845.6:c.3736C>G