ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590617
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571821
ClinVar RCV Id:
RCV000693060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Cys140Phe
CA2277336
NM_001281724.3:c.419G>T