ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA107250
Gene: PCBD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000880965
RCV003907903
RCV004020912
ClinVar Variation:
242621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000272.1:p.Arg88Gln
CA049137
NM_000281.4:c.263G>A
CA049219
NM_000281.4:c.[263G>A;79G>T]