Canonical Allele Identifier: PA2580520611
Gene: BBS5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689597.1:p.Trp8Cys
CA1956072
NM_152384.3:c.24G>C
CA349158683
NM_152384.3:c.24G>T