Canonical Allele Identifier: PA2573096569
Gene: BBS2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Asp174Glu
CA8066026
NM_031885.5:c.522T>A
CA395984169
NM_031885.5:c.522T>G