ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826607898
Gene: BFSP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265536.1:p.Asp237Asn
CA408316449
NM_001278607.2:c.709G>A