ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590908
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439039
ClinVar RCV Id:
RCV000508475
RCV000715008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Ala279Pro
CA351607446
NM_001281724.3:c.835G>C