ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248325
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000261210
RCV000297752
RCV000542124
RCV000710246
RCV001252117
RCV003317130
RCV004537517
ClinVar Variation:
199227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Ser5943Pro
CA248323
NM_182961.4:c.17827T>C