Canonical Allele Identifier: PA2573291616
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352440
ClinVar RCV Id: RCV002049470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Leu125Pro
CA395984501
NM_031885.5:c.374T>C