ClinGen Allele Registry
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Canonical Allele Identifier:
PA232845
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132656
RCV000155350
RCV000264975
RCV000324875
RCV000490497
ClinVar Variation:
143132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Glu737Lys
CA232844
NM_006005.3:c.2209G>A