Canonical Allele Identifier: PA258836
Gene: COL4A5 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000486.1:p.Ser1071Ter
NM_000495.4:c.3212C>A

NM_000495.4:c.3212C>G