Canonical Allele Identifier: PA258718
Gene: COL4A5 HGNC NCBI
ClinVar RCV:
RCV000021420
ClinVar Variation:
24541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_203699.1:p.Gly866Glu
CA258717
NM_033380.3:c.2597G>A