ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097102
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197086
ClinVar RCV Id:
RCV000178011
RCV000392049
RCV000549055
RCV002516764
RCV001721121
RCV000340175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ala1717Asp
CA245026
NM_033071.5:c.5150C>A