ClinGen Allele Registry
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Canonical Allele Identifier:
PA205519
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_116056.3:p.Ser280Phe
CA205518
NM_032667.6:c.839C>T