ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741996062
Gene: COL4A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly573Val
CA413845464
NM_033380.3:c.1718G>T