Canonical Allele Identifier: PA278207
Gene: BTD HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000051.1:p.Phe149Leu
CA278206
NM_000060.4:c.445T>C
CA351605821
NM_000060.4:c.447C>G
CA351605827
NM_000060.4:c.447C>A