ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830088125
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3065981
ClinVar RCV Id:
RCV003989436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ser6850Ile
CA366116139
NM_033071.5:c.20549G>T