ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097817
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1330806
ClinVar RCV Id:
RCV001802465
RCV002542339
RCV002541367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Tyr1646Cys
CA334063393
NM_033380.3:c.4937A>G