Canonical Allele Identifier: PA2826591732
Gene: BTD HGNC NCBI
ClinVar Allele:
36368
ClinVar RCV:
RCV000021953
ClinVar Variation:
25031
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001268654.1:p.Leu195Phe
CA278243
NM_001281725.2:c.583C>T