ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825698635
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1390835
ClinVar RCV Id:
RCV001891203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Val66Ala
CA380970188
NM_001130702.2:c.197T>C