ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA259006
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36059
ClinVar RCV:
RCV000021597
RCV000782215
RCV002247376
ClinVar Variation:
24718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Arg1416Cys
CA259005
NM_033380.3:c.4246C>T