ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258470
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24406
ClinVar RCV Id:
RCV001257274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly466Glu
CA258469
NM_033380.3:c.1397G>A