ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258489
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
35760
ClinVar RCV:
RCV001328070
ClinVar Variation:
24419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly500Arg
CA258488
NM_000495.4:c.1498G>C