Canonical Allele Identifier: PA2580533243
Gene: BBS7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_789794.1:p.Arg669Ser
CA358054209
NM_176824.3:c.2007A>T
CA358054210
NM_176824.3:c.2007A>C