ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573096567
Gene: BBS2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_114091.4:p.Gly139Val
NM_031885.5:c.416G>T