ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826592135
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
343912
ClinVar RCV Id:
RCV000264378
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268654.1:p.Glu409Lys
CA2277449
NM_001281725.2:c.1225G>A