ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093513
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_000051.1:p.Ala171Thr
CA285305
NM_000060.4:c.511G>A