Canonical Allele Identifier: PA2825199762
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2444221
ClinVar RCV Id: RCV003153019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Gly1167_Lys1168del
CA2580100167
NM_000495.4:c.3499_3504del