ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573078507
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Gln370Lys
CA6053326
NM_001386027.1:c.1108C>A