Canonical Allele Identifier: PA2499294961
Gene: COL4A5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_203699.1:p.Lys330Asn
CA413927806
NM_033380.3:c.990G>C
CA413927812
NM_033380.3:c.990G>T