ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA258556
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2138696
ClinVar RCV Id:
RCV003050647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Pro619Leu
CA258555
NM_000495.4:c.1856C>T