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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:
PA2827034535
Gene: MEF2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8949
ClinVar RCV Id:
RCV000009505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306135.1:p.Pro277Leu
CA120015
NM_001319206.4:c.830C>T