ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830399147
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
355942
ClinVar RCV Id:
RCV000309449
RCV000393945
RCV001322802
RCV003233627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ala421Val
CA4059475
NM_182961.4:c.1262C>T