ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097500
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448613
ClinVar RCV Id:
RCV000730924
RCV001088942
RCV002527543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Leu2679Pro
CA4057632
NM_033071.5:c.8036T>C