ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825198309
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1345684
ClinVar RCV Id:
RCV002049913
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Pro554Ala
CA413845343
NM_000495.4:c.1660C>G