ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097249
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195990
ClinVar RCV Id:
RCV000176691
RCV000529381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Asp1032Val
CA242715
NM_033071.5:c.3095A>T