ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089514
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000193297
RCV000291749
RCV000346757
RCV000951589
ClinVar Variation:
212341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg8201Gln
CA206679
NM_033071.5:c.24602G>A