Canonical Allele Identifier: PA2573286407
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436841
ClinVar RCV Id: RCV001931738
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Pro418Leu
CA381422674
NM_024649.5:c.1253C>T