ClinGen Allele Registry
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Canonical Allele Identifier:
PA295792
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000155347
RCV000515318
RCV000677339
RCV000767006
RCV001152091
RCV004534992
ClinVar Variation:
178597
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Arg653Cys
CA295791
NM_006005.3:c.1957C>T