ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827402162
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_001334630.1:p.His610Arg
CA4052897
NM_001347701.2:c.1829A>G