Canonical Allele Identifier: PA2825117784
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2500833
ClinVar RCV Id: RCV003226018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000252.1:p.Met504_Ter505insTrpLysAlaSerLysLeuTyrArgGlnTrpGlnLysGluMetLeuArgAlaProGlyGlySerArgLeuLysGlyGluProAlaSerGlnGlyProGlySerPheAspCysPheProSerPheHis
CA343722726
NM_000261.2:c.1515A>G