ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258297
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003066362
RCV003152810
ClinVar Variation:
2138685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly213Glu
CA258296
NM_000495.4:c.638G>A