ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830085795
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
355877
ClinVar RCV Id:
RCV000275716
RCV000314518
RCV003137974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Glu4402Lys
CA4056181
NM_033071.5:c.13204G>A