ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247889
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180420
RCV001523482
RCV003937637
ClinVar Variation:
198955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Arg5149Cys
CA247888
NM_182914.2:c.15445C>T