ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259135
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24780
ClinVar RCV Id:
RCV000021659
RCV001389981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Cys1638Tyr
CA259134
NM_000495.4:c.4913G>A