ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253191
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4512
ClinVar RCV Id:
RCV000004770
RCV001387727
RCV002243622
RCV002496259
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Pro504Leu
CA253190
NM_006005.3:c.1511C>T