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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:
PA2829794609
Gene: MYT1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375549
ClinVar RCV Id:
RCV000416999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055840.2:p.Leu518Pro
CA16044342
NM_015025.4:c.1553T>C