Canonical Allele Identifier: PA2826607915
Gene: BFSP1 HGNC NCBI
ClinVar RCV:
RCV001365899
ClinVar Variation:
1056991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265536.1:p.Thr379Ala
CA9772054
NM_001278607.2:c.1135A>G