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: PA2828320481

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 178483

ClinVar RCV Id: RCV000155231 RCV000288323 RCV000345669 RCV000388720 RCV000974265 RCV004534989

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356294.1:p.His1018Arg	CA182416 NM_001369365.1:c.3053A>G