Canonical Allele Identifier: PA2573180973
Gene: BFSP1 HGNC NCBI
ClinVar RCV:
RCV002019724
ClinVar Variation:
1497022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186.1:p.Thr648Ile
CA9771947
NM_001195.5:c.1943C>T