ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829061654
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389256
ClinVar RCV Id:
RCV001887090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372957.1:p.Thr123Ile
CA380970334
NM_001386028.1:c.368C>T