ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826768122
Gene: PCBD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276726.1:p.Thr55_Ter56insGlnThrLeuProPheLeuPheGluPhePheArgGlyLysGly
CA5541569
NM_001289797.2:c.166T>C