ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026790
Gene: PCBD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309933.1:p.Val69Met
CA5541599
NM_001323004.2:c.205G>A