ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087420
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499970
ClinVar RCV Id:
RCV000597682
RCV001155950
RCV001155951
RCV001867963
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ala6220Thr
CA4054825
NM_033071.5:c.18658G>A