ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078565
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
581808
ClinVar RCV Id:
RCV000705740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372957.1:p.Val227Phe
CA380963063
NM_001386028.1:c.679G>T