ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258804
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24591
ClinVar RCV Id:
RCV001387178
RCV001563661
RCV001849277
RCV002288515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly1030Ser
CA258803
NM_033380.3:c.3088G>A