Canonical Allele Identifier: PA916078361
Gene: BBS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.Lys280Asn
CA6123532
NM_024649.5:c.840G>C
CA381461133
NM_024649.5:c.840G>T