ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096348
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
35819
ClinVar RCV:
RCV003050648
ClinVar Variation:
2138701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly681Asp
CA258600
NM_000495.4:c.2042G>A