ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825698790
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Ala185Thr
CA6053484
NM_001130702.2:c.553G>A