ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830422117
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193779
ClinVar RCV Id:
RCV000173944
RCV000548971
RCV001288489
RCV003955019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878917.1:p.Arg13Cys
CA239424
NM_182913.2:c.37C>T