ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825698869
Gene: BSCL2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
207867
ClinVar RCV:
RCV000192598
RCV000766869
RCV001083233
RCV001174400
RCV002433863
RCV002467651
RCV003884385
ClinVar Variation:
210545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124174.2:p.Pro233Ser
CA205518
NM_001130702.2:c.697C>T