ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825198384
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1931318
ClinVar RCV Id:
RCV002605489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Glu592Gln
CA413845576
NM_000495.4:c.1774G>C