ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916048571
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25073
ClinVar RCV Id:
RCV000021998
RCV002477004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357587.1:p.Cys403Arg
CA278312
NM_001370658.1:c.1207T>C