ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826589757
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
38275
ClinVar RCV Id:
RCV000021949
RCV000724129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Tyr190Cys
CA278239
NM_001281723.3:c.569A>G