ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097180
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282636
ClinVar RCV Id:
RCV000269267
RCV000799302
RCV004543008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.His471Arg
CA4059409
NM_033071.5:c.1412A>G