ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097448
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285099
ClinVar RCV Id:
RCV000647677
RCV000383754
RCV004535342
RCV001697649
RCV002521930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ile2323Val
CA4057960
NM_033071.5:c.6967A>G