Canonical Allele Identifier: PA645408497
Gene: BBS7 HGNC NCBI

Linked Data

ClinVar Variation Id: 347482
ClinVar RCV Id: RCV000330267 RCV000435007 RCV000709647 RCV001094938 RCV001700075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_789794.1:p.His502Arg
CA3064214
NM_176824.3:c.1505A>G