ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825197483
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499283
ClinVar RCV Id:
RCV000591165
RCV001449946
RCV003905531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Tyr30Cys
CA10488361
NM_000495.4:c.89A>G