ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826591108
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1419744
ClinVar RCV Id:
RCV001940731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268653.2:p.Pro387Ser
CA2277437
NM_001281724.3:c.1159C>T