Canonical Allele Identifier: PA2827051748
Gene: BBS4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Gln406His
CA7646985
NM_001320665.2:c.1218G>T
CA393080509
NM_001320665.2:c.1218G>C