ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828448770
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289700
ClinVar RCV Id:
RCV000392405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.His127Arg
CA10606520
NM_001370752.1:c.380A>G