ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826590243
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25108
ClinVar RCV Id:
RCV000022034
RCV001266891
RCV002271373
RCV003476902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268652.2:p.Ala458Thr
CA278372
NM_001281723.3:c.1372G>A