ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078571
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
567295
ClinVar RCV Id:
RCV000687331
RCV002493153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372957.1:p.Pro258Leu
CA6053454
NM_001386028.1:c.773C>T