ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826592337
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2057329
ClinVar RCV Id:
RCV002923302
RCV002923301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Ala513Val
CA2277500
NM_001281725.2:c.1538C>T