Canonical Allele Identifier: PA2825200257
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 774123
ClinVar RCV Id: RCV000954026 RCV002502953 RCV003903254 RCV004017764 RCV004029858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Gln1431Glu
CA10489335
NM_000495.4:c.4291C>G