Canonical Allele Identifier: PA2829888518
Gene: BBS7 HGNC NCBI
ClinVar RCV:
RCV000625806
ClinVar Variation:
522666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060660.2:p.Gly42Glu
CA358045190
NM_018190.4:c.125G>A