ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825698856
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Ala218Val
CA6053437
NM_001130702.2:c.653C>T