ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827195656
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385308
ClinVar RCV Id:
RCV000755884
RCV000876680
RCV002521735
RCV003912709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310511.1:p.Gln68Glu
CA2277272
NM_001323582.1:c.202C>G