Canonical Allele Identifier: PA2827195806
Gene: BTD HGNC NCBI
ClinVar Allele:
36376
ClinVar RCV:
RCV000021961
ClinVar Variation:
25039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Pro233Ser
CA278256
NM_001323582.1:c.697C>T