ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827402643
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538392
ClinVar RCV Id:
RCV000647632
RCV000713648
RCV004544876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.His586Arg
CA4052897
NM_001347702.2:c.1757A>G