ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590631
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38298
ClinVar RCV Id:
RCV000031859
RCV000078073
RCV002514126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Ala151Thr
CA285305
NM_001281724.3:c.451G>A