ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097175
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_149062.2:p.Ala428Val
CA4059475
NM_033071.5:c.1283C>T