ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097170
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194275
ClinVar RCV Id:
RCV000174608
RCV000327087
RCV000370223
RCV000713584
RCV001081601
RCV004539614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Asp388Asn
CA240160
NM_033071.5:c.1162G>A