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: PA278671

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43245

ClinVar RCV Id: RCV000036150 RCV000725794

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000251.3:p.Glu1515_Met1517delinsAla	CA278670 NM_000260.4:c.4544_4551delinsCA