ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830001796
Gene: GPBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_075064.1:p.Glu231Lys
CA3274443
NM_022913.4:c.691G>A