ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829577244
Gene: SIM2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004236732
ClinVar Variation:
2402779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005060.1:p.Val269Met
CA320384808
NM_005069.6:c.805G>A