ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825698846
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2633479
ClinVar RCV Id:
RCV003400114
RCV003745596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Tyr213His
CA6053442
NM_001130702.2:c.637T>C