ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827195702
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
359456
ClinVar RCV:
RCV000414058
RCV000675064
ClinVar Variation:
373539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Arg128Cys
CA2277309
NM_001323582.1:c.382C>T