ClinGen Allele Registry
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Canonical Allele Identifier:
PA891854991
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
587217
ClinVar RCV Id:
RCV000714432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Ser1604Phe
CA414132603
NM_033380.3:c.4811C>T