ClinGen Allele Registry
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Canonical Allele Identifier:
PA245586
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000178473
RCV000309218
RCV000362586
RCV000756737
RCV001079411
ClinVar Variation:
197445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Arg2000Lys
CA245585
NM_182961.4:c.5999G>A