ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259108
Gene: COL4A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_203699.1:p.Cys1592Phe
NM_033380.3:c.4775G>T