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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828290685
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8577
ClinVar RCV Id:
RCV000009108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355794.1:p.Cys442Tyr
CA254503
NM_001368865.1:c.1325G>A