ClinGen Allele Registry
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Canonical Allele Identifier:
PA258588
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24470
ClinVar RCV Id:
RCV000021349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly666Asp
CA258586
NM_033380.3:c.1997G>A