Canonical Allele Identifier: PA2573096561
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 209042
ClinVar RCV Id: RCV000190987 RCV000675055 RCV001380380 RCV001002878 RCV004539761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Ala33Asp
CA204968
NM_031885.5:c.98C>A