ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA258663
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000681866
ClinVar Variation:
24509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly778Ser
CA258662
NM_000495.4:c.2332G>A