ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830087230
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284767
ClinVar RCV Id:
RCV000725524
RCV001071366
RCV001157766
RCV001157765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg5994Trp
CA4055038
NM_033071.5:c.17980C>T