ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645482812
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284132
ClinVar RCV Id:
RCV000290700
RCV001152188
RCV001345456
RCV001152187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Arg6227Trp
CA4054891
NM_182961.4:c.18679C>T