ClinGen Allele Registry
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Canonical Allele Identifier:
PA258718
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24541
ClinVar RCV Id:
RCV000021420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly866Glu
CA258717
NM_033380.3:c.2597G>A