Canonical Allele Identifier: PA2573096568
Gene: BBS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191068
ClinVar RCV Id: RCV000171247 RCV001329456
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_114091.4:p.Asp170Asn
CA235951
NM_031885.5:c.508G>A