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Canonical Allele Identifier: Get Identifier
Gene: BTD HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000388212.1:p.[Val201_Thr207delinsCysSerAlaIleMetGluPro;Val209_Pro226delinsLeuThrAlaThrValAsnThrThrSerThrLeuArgGlnHisSerMetPheLeu;Val229_Asp230delinsTrp]
CA278234
ENST00000449107.5:c.600del