ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829061479
Gene: BSCL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2571530
ClinVar RCV Id:
RCV003312930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372956.1:p.Tyr251Cys
CA380962537
NM_001386027.1:c.752A>G