ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826592554
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156001
ClinVar RCV Id:
RCV000144057
RCV000985647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268655.2:p.Thr132Arg
CA278435
NM_001281726.2:c.395C>G