ClinGen Allele Registry
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Canonical Allele Identifier:
PA340982
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10467
ClinVar RCV Id:
RCV000011213
RCV000518046
RCV001328066
RCV003934823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Arg1683Gln
CA340981
NM_033380.3:c.5048G>A