ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048689
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25054
ClinVar RCV Id:
RCV000021976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Gly292Ser
CA278283
NM_001370752.1:c.874G>A