ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673833
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458806
ClinVar RCV Id:
RCV000524591
RCV001578266
RCV002282207
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Tyr454Cys
CA2277463
NM_000060.4:c.1361A>G