ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138829
Gene: PCBD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000272.1:p.Thr104_Ter105insGlnThrLeuProPheLeuPheGluPhePheArgGlyLysGly
CA5541569
NM_000281.4:c.313T>C