ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830401083
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285689
ClinVar RCV Id:
RCV000373434
RCV001157541
RCV001157542
RCV001855156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ser2242Thr
CA4058000
NM_182961.4:c.6724T>A