ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402512
Gene: SYNE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
191469
ClinVar RCV:
RCV000174643
RCV000647654
RCV000710251
RCV001252114
RCV002516638
RCV004528929
ClinVar Variation:
194306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.His396Gln
CA240213
NM_001347702.2:c.1188C>G
CA4053091
NM_001347702.2:c.1188C>A