ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916051005
Gene: BBS10
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078961.3:p.Val707Ter
CA6694048
NM_024685.4:c.2119_2120del