Canonical Allele Identifier: PA645478820
Gene: BBS5 HGNC NCBI

Linked Data

ClinVar Variation Id: 412295
ClinVar RCV Id: RCV000463506 RCV000765535 RCV001090461 RCV001821295 RCV003972762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689597.1:p.Asn251Asp
CA1956310
NM_152384.3:c.751A>G