Canonical Allele Identifier: PA2825200577
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 587217
ClinVar RCV Id: RCV000714432
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Ser1598Phe
CA414132603
NM_000495.4:c.4793C>T