ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825200556
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2440322
ClinVar RCV Id:
RCV003145713
RCV003548989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.His1577Asp
CA414132461
NM_000495.4:c.4729C>G