ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573293055
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_116056.3:p.Thr59Ile
CA380970334
NM_032667.6:c.176C>T