Canonical Allele Identifier: PA913198924
Gene: BBS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 625443
ClinVar RCV Id: RCV000782272 RCV003392580
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078925.3:p.His339Leu
CA381462305
NM_024649.5:c.1016A>T