ClinGen Allele Registry
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Canonical Allele Identifier:
PA258948
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24678
ClinVar RCV Id:
RCV000710877
RCV002496435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Gly1244Asp
CA258947
NM_033380.3:c.3731G>A