ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258319
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2737327
ClinVar RCV Id:
RCV003560271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly239Glu
CA258318
NM_033380.3:c.716G>A