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: PA099973

Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 7952

ClinVar RCV Id: RCV000008415 RCV000255116 RCV002247272

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000252.1:p.Gly367Arg	CA119176 NM_000261.2:c.1099G>A CA343724729 NM_000261.2:c.1099G>C