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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:
PA2828290957
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8581
ClinVar RCV Id:
RCV000009112
RCV000219073
RCV001582473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355795.1:p.His246Arg
CA119764
NM_001368866.1:c.737A>G