ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826768104
Gene: PCBD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16797
ClinVar RCV Id:
RCV000018288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001276726.1:p.Thr30Ile
CA278138
NM_001289797.2:c.89C>T