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: PA2825116312

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 2180935

ClinVar RCV Id: RCV002619513

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000251.3:p.Glu1032Lys	CA381944328 NM_000260.4:c.3094G>A