ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830087917
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290455
ClinVar RCV Id:
RCV000361906
RCV000792010
RCV001155832
RCV001155831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu6649Ala
CA4054484
NM_033071.5:c.19946A>C