ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825197478
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1305464
ClinVar RCV Id:
RCV001768671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Ala28Thr
CA413908399
NM_000495.4:c.82G>A