ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097359
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286235
ClinVar RCV Id:
RCV000309940
RCV000346116
RCV000337318
RCV000811570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Gln1716Lys
CA4058353
NM_033071.5:c.5146C>A