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: PA177367

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 164656

ClinVar RCV Id: RCV000151476 RCV000665283 RCV001054443 RCV001115095 RCV001115096 RCV001115094 RCV001831942

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000251.3:p.His133Asn	CA177366 NM_000260.4:c.397C>A