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: PA119765

Gene: MYO6 HGNC NCBI

Linked Data

ClinVar Variation Id: 8581

ClinVar RCV Id: RCV000009112 RCV000219073 RCV001582473

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004990.3:p.His246Arg	CA119764 NM_004999.4:c.737A>G