ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402180
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285365
ClinVar RCV Id:
RCV000524861
RCV000713650
RCV001335277
RCV001642887
RCV003992260
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334630.1:p.Asp650Asn
CA4052865
NM_001347701.2:c.1948G>A