ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259140
Gene: COL4A5
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_203699.1:p.Ser1665Asn
NM_033380.3:c.4994G>A