ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278139
Gene: PCBD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018288
ClinVar Variation:
16797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000272.1:p.Thr79Ile
CA278138
NM_000281.4:c.236C>T