Canonical Allele Identifier: PA1139743040
Gene: BTD HGNC NCBI

Linked Data

ClinVar Variation Id: 24973
ClinVar RCV Id: RCV000021888 RCV000185799 RCV000724323 RCV003974849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357682.1:p.Gly25Arg
CA081801
NM_001370753.1:c.[73G>A;399+2664G>C]
CA081852
NM_001370753.1:c.[73G>A;399+3070G>C]
CA241269
NM_001370753.1:c.73G>A
CA351602869
NM_001370753.1:c.73G>C