ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683581
Gene: PCBD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948589
ClinVar RCV Id:
RCV001219880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000272.1:p.Ser94Ile
CA377127208
NM_000281.4:c.281G>T