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: PA2828319470

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1024657

ClinVar RCV Id: RCV001324871

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356294.1:p.Lys153Asn	CA381931779 NM_001369365.1:c.459G>T CA381931780 NM_001369365.1:c.459G>C