ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830086395
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198942
ClinVar RCV Id:
RCV000180405
RCV000647614
RCV001657961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Gln5119Glu
CA247861
NM_033071.5:c.15355C>G