Canonical Allele Identifier: PA2827196069
Gene: BTD HGNC NCBI
ClinVar Allele:
36435
ClinVar RCV:
RCV000022026
ClinVar Variation:
25101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Tyr520Cys
CA278359
NM_001323582.1:c.1559A>G