ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499295029
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
988255
ClinVar RCV Id:
RCV001328291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Pro1590His
CA414132513
NM_033380.3:c.4769C>A