ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830090016
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502164
ClinVar RCV Id:
RCV000595658
RCV000765872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr8743Met
CA4052577
NM_033071.5:c.26228C>T