ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580151306
Gene: BSPH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121798.1:p.Glu109Gly
CA9544999
NM_001128326.2:c.326A>G