Canonical Allele Identifier: PA658654768
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444259
ClinVar RCV Id: RCV000513191 RCV001199648 RCV000674877
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Gly318Arg
CA381461967
NM_024649.5:c.952G>A
CA381461971
NM_024649.5:c.952G>C