ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499294996
Gene: COL4A5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Pro783Leu
CA10488896
NM_033380.3:c.2348C>T