ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402737
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000625938
RCV000694728
RCV000710253
RCV001156685
RCV004020072
RCV004545754
ClinVar Variation:
194451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334631.1:p.Asp762Ala
CA240413
NM_001347702.2:c.2285A>C