Canonical Allele Identifier: PA258587
Gene: COL4A5 HGNC NCBI
ClinVar RCV:
RCV000021349
ClinVar Variation:
24470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000486.1:p.Gly666Asp
CA258586
NM_000495.4:c.1997G>A