ClinGen Allele Registry
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Canonical Allele Identifier:
PA095189
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36059
ClinVar RCV:
RCV000021597
RCV000782215
RCV002247376
ClinVar Variation:
24718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Arg1410Cys
CA259005
NM_000495.4:c.4228C>T