ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830085931
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285328
ClinVar RCV Id:
RCV000713598
RCV000811161
RCV001158275
RCV001158276
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Asn4546His
CA4056112
NM_033071.5:c.13636A>C