ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087722
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116056.3:p.Val248Ile
CA6053405
NM_032667.6:c.742G>A