ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645386231
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241723
ClinVar RCV Id:
RCV000234334
RCV003352809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116427.1:p.Pro430Ser
CA6053260
NM_001122955.4:c.1288C>T