ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830089401
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000343407
RCV000647639
RCV001151473
RCV001151474
RCV004528268
ClinVar Variation:
76197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Asp8147Asn
CA4053105
NM_033071.5:c.24439G>A