ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825600964
Gene: GPBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120708.1:p.Glu238Lys
CA3274443
NM_001127236.2:c.712G>A