Canonical Allele Identifier: PA2826768122
Gene: PCBD1 HGNC NCBI
ClinVar Allele:
420435
ClinVar RCV:
RCV000492299
ClinVar Variation:
428616
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001276726.1:p.Thr55_Ter56insGlnThrLeuProPheLeuPheGluPhePheArgGlyLysGly
CA5541569
NM_001289797.2:c.166T>C