ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827402437
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194299
ClinVar RCV Id:
RCV000174636
RCV000323013
RCV000382388
RCV000554366
RCV001711347
RCV004539617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Arg272Trp
CA240197
NM_001347702.2:c.814C>T