ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248304
Gene: SYNE2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000180739
RCV000526342
RCV002469047
RCV003955103
ClinVar Variation:
199220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Arg5573Gln
CA248303
NM_182914.2:c.16718G>A