ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402074
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194305
ClinVar RCV Id:
RCV000174642
RCV000285979
RCV000380430
RCV000647647
RCV001078935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Ala478Gly
CA240210
NM_001347701.2:c.1433C>G