ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100953
Gene: BBS5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_689597.1:p.Gly72Ser
NM_152384.3:c.214G>A