ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658665298
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447208
ClinVar RCV Id:
RCV000516753
RCV000952213
RCV001391164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Pro1320Ser
CA10489254
NM_033380.3:c.3958C>T