ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087066
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281233
ClinVar RCV Id:
RCV000345756
RCV000701645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg5809Leu
CA4055174
NM_033071.5:c.17426G>T