ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913198924
Gene: BBS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
625443
ClinVar RCV Id:
RCV000782272
RCV003392580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078925.3:p.His339Leu
CA381462305
NM_024649.5:c.1016A>T