Canonical Allele Identifier: PA2580468350
Gene: BBS4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149017.2:p.Gln429His
CA7646985
NM_033028.5:c.1287G>T
CA393080509
NM_033028.5:c.1287G>C