ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830400353
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283666
ClinVar RCV Id:
RCV000725306
RCV001088719
RCV003323490
RCV004535303
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Leu1575Phe
CA4058480
NM_182961.4:c.4723C>T