Canonical Allele Identifier: PA2827051648
Gene: BBS4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307594.1:p.Asp280Asn
CA393078813
NM_001320665.2:c.838G>A
CA2580089995
NM_001320665.2:c.837_838delinsCA