ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258277
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24292
ClinVar RCV Id:
RCV000021170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly195Asp
CA258276
NM_000495.4:c.584G>A