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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:
PA645430131
Gene: MSTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
333238
ClinVar RCV Id:
RCV000376122
RCV000960832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005250.1:p.Glu164Lys