ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825199574
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289893
ClinVar RCV Id:
RCV000407157
RCV001828269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Ser1099Phe
CA10489089
NM_000495.4:c.3296C>T