Canonical Allele Identifier: PA2826355278
Gene: BBS4 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001239607.1:p.Asp131Asn
CA393078813
NM_001252678.2:c.391G>A
CA2580089995
NM_001252678.2:c.390_391delinsCA