Canonical Allele Identifier: PA2828716384
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 216780
ClinVar RCV Id: RCV000199008 RCV000665496 RCV001729451 RCV001818493 RCV004530199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001364385.1:p.Gln508Pro
CA338335
NM_001377456.1:c.1523A>C