ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097236
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290487
ClinVar RCV Id:
RCV000287860
RCV001067771
RCV001660557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ser917Gly
CA4059036
NM_033071.5:c.2749A>G