ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247863
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180405
RCV000647614
RCV001657961
ClinVar Variation:
198942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Gln5190Glu
CA247861
NM_182961.4:c.15568C>G