Canonical Allele Identifier: PA2826607929
Gene: BFSP1 HGNC NCBI
ClinVar RCV:
RCV003616744
ClinVar Variation:
2849469
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001265536.1:p.Glu515Lys
CA9771970
NM_001278607.2:c.1543G>A