ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245027
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_892006.3:p.Ala1710Asp
CA245026
NM_182961.4:c.5129C>A