ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258384
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
35695
ClinVar RCV:
RCV005048806
ClinVar Variation:
3597875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly331Val
CA258383
NM_033380.3:c.992G>T