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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:
PA2827273599
Gene: MYT1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420804
ClinVar RCV Id:
RCV000483053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001316778.1:p.Ser526Phe