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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:
PA2825441200
Gene: MYH14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329941
ClinVar RCV Id:
RCV000296876
RCV001731610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070654.1:p.Arg1504Gln
CA9593557
NM_001077186.2:c.4511G>A