ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097291
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000306134
RCV000541201
RCV001152385
RCV001152386
RCV004535295
ClinVar Variation:
283246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu1319Lys
CA4058711
NM_033071.5:c.3955G>A