ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499294979
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1185595
ClinVar RCV Id:
RCV001544545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Pro587Ser
CA413845545
NM_033380.3:c.1759C>T