Canonical Allele Identifier: PA095189
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 24718
ClinVar RCV Id: RCV000021597 RCV000782215 RCV002247376
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Arg1410Cys
CA259005
NM_000495.4:c.4228C>T