ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089717
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285365
ClinVar RCV Id:
RCV000524861
RCV000713650
RCV001335277
RCV001642887
RCV003992260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Asp8400Asn
CA4052865
NM_033071.5:c.25198G>A