ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095234
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_000486.1:p.Arg1677Gln
CA340981
NM_000495.4:c.5030G>A