Canonical Allele Identifier: PA258933
Gene: COL4A5 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000486.1:p.Gly1232Ser
NM_000495.4:c.[3689dup;3691C=;3693T>A;369...

NM_000495.4:c.[3689dup;3693T>A;3695del]

NM_000495.4:c.3694G>A