ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573097405
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000178473
RCV000309218
RCV000362586
RCV000756737
RCV001079411
ClinVar Variation:
197445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Arg2007Lys
CA245585
NM_033071.5:c.6020G>A