ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239380
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193750
ClinVar RCV Id:
RCV000173909
RCV000694792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ala288Thr
CA239379
NM_182961.4:c.862G>A