ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829061330
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305182
ClinVar RCV Id:
RCV000302313
RCV000398286
RCV003950023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Leu62Phe
CA6053645
NM_001386027.1:c.184C>T