ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095224
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000021636
RCV000518063
RCV001375165
RCV002293990
ClinVar Variation:
24757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Arg1563Gln
CA259087
NM_000495.4:c.4688G>A