Canonical Allele Identifier: PA2829888878
Gene: BBS7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Asn547Lys
CA358057215
NM_018190.4:c.1641C>G
CA358057216
NM_018190.4:c.1641C>A