ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891854948
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
587188
ClinVar RCV Id:
RCV000902925
RCV001274534
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_203699.1:p.Leu1358Ile
CA10489283
NM_033380.3:c.4072C>A