ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826607984
Gene: BFSP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001365899
ClinVar Variation:
1056991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265537.1:p.Thr351Ala
CA9772054
NM_001278608.2:c.1051A>G