ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068513971
Gene: BAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004647.1:p.Gln684Glu
CA353096129
NM_004656.4:c.2050C>G