ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580414312
Gene: SIX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2183703
ClinVar RCV Id:
RCV002599747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_058628.3:p.Leu232Ile
CA1642496
NM_016932.5:c.694C>A