ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580447235
Gene: BBS10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2122045
ClinVar RCV Id:
RCV003043502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078961.3:p.Leu644Phe
CA385808963
NM_024685.4:c.1930C>T