Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580113243

Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 2498114

ClinVar RCV Id: RCV003219175

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000252.1:p.Glu414Lys	CA343724203 NM_000261.2:c.1240G>A