ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828448794
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
46845
ClinVar RCV:
RCV000021904
RCV000078072
ClinVar Variation:
38290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Arg137His
CA082708
NM_001370752.1:c.[410G>A;1015+255G>C]
CA220323
NM_001370752.1:c.410G>A