Canonical Allele Identifier: PA095943
Gene: COL4A5 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Gly374Ala
CA258407
NM_000495.4:c.1121G>C