ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830087355
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284132
ClinVar RCV Id:
RCV000290700
RCV001152188
RCV001345456
RCV001152187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg6156Trp
CA4054891
NM_033071.5:c.18466C>T