ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402375
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000301160
RCV000398017
RCV001753480
RCV001854262
ClinVar Variation:
76198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Arg154Gln
CA4053280
NM_001347702.2:c.461G>A