Canonical Allele Identifier: PA2826355376
Gene: BBS4 HGNC NCBI

Linked Data

ClinVar Variation Id: 9148
ClinVar RCV Id: RCV000009719 RCV003228893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001239607.1:p.Ala192Glu
CA254672
NM_001252678.2:c.575C>A