ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830086300
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198681
ClinVar RCV Id:
RCV000195238
RCV000325682
RCV000382649
RCV000542729
RCV000710243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Val5042Ile
CA209917
NM_033071.5:c.15124G>A