ClinGen Allele Registry
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Canonical Allele Identifier:
PA916049270
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
774123
ClinVar RCV Id:
RCV000954026
RCV002502953
RCV003903254
RCV004017764
RCV004029858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gln1437Glu
CA10489335
NM_033380.3:c.4309C>G