Canonical Allele Identifier: PA2825199031
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047369
ClinVar RCV Id: RCV002904254
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Asp847_Asp854del
CA2580100187
NM_000495.4:c.2540_2563del