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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:
PA2828291197
Gene: MYO6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
164647
ClinVar RCV Id:
RCV000151474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355795.1:p.Arg1169Cys
CA177362
NM_001368866.1:c.3505C>T