ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590074
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25062
ClinVar RCV Id:
RCV000021987
RCV000405919
RCV002281714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Asn382Ser
CA278298
NM_001281723.3:c.1145A>G