ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742026722
Gene: SIX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3008773
ClinVar RCV Id:
RCV003861900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787071.3:p.Glu379Lys
CA406419352
NM_175875.5:c.1135G>A