ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746370
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932073
ClinVar RCV Id:
RCV001199206
RCV003163503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Ile706Val
CA413847044
NM_033380.3:c.2116A>G