ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139747242
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
990709
ClinVar RCV Id:
RCV001278790
RCV001445299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Ile1359Val
CA10489284
NM_033380.3:c.4075A>G