ClinGen Allele Registry
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Canonical Allele Identifier:
PA096582
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10466
ClinVar RCV Id:
RCV000011212
RCV000440813
RCV001195698
RCV003398479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Leu1649Arg
CA340979
NM_000495.4:c.4946T>G