ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580488832
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1992310
ClinVar RCV Id:
RCV002795895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly749Ser
CA413848554
NM_033380.3:c.2245G>A