ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828750045
Gene: UMOD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000964011
RCV002251356
RCV004544570
ClinVar Variation:
318289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365163.1:p.Arg506Trp
CA7939160
NM_001378234.1:c.1516C>T