Canonical Allele Identifier: PA2827195783
Gene: BTD HGNC NCBI
ClinVar Allele:
165806
ClinVar RCV:
RCV000144059
ClinVar Variation:
156002
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310511.1:p.Asp208Gly
CA278437
NM_001323582.1:c.623A>G