ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097459
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
355914
ClinVar RCV Id:
RCV000291231
RCV000345634
RCV000820342
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Val2399Ala
CA4057897
NM_033071.5:c.7196T>C