ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829061358
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246509
ClinVar RCV Id:
RCV000235352
RCV000543721
RCV002418047
RCV002479947
RCV003930012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Cys100Phe
CA6053624
NM_001386027.1:c.299G>T