ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045940
Gene: SZT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372895
ClinVar RCV Id:
RCV000412881
RCV000735287
RCV001004920
RCV003156093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352928.1:p.Val2041del
CA809797
NM_001365999.1:c.6120_6122del