Canonical Allele Identifier: PA2741839632
Gene: BFSP1 HGNC NCBI
ClinVar RCV:
RCV003615613
ClinVar Variation:
2908735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001186.1:p.Arg560Cys
CA9772015
NM_001195.5:c.1678C>T