Canonical Allele Identifier: PA2580414312
Gene: SIX2 HGNC NCBI
ClinVar RCV:
RCV002599747
ClinVar Variation:
2183703
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_058628.3:p.Leu232Ile
CA1642496
NM_016932.5:c.694C>A