ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830400357
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288391
ClinVar RCV Id:
RCV000397637
RCV000778782
RCV000792483
RCV001157767
RCV003488502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Pro1578Ser
CA4058479
NM_182961.4:c.4732C>T