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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:
PA2827889108
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187221
ClinVar RCV Id:
RCV000166929
RCV000481402
RCV000805743
RCV003491912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341546.1:p.Tyr138Ser
CA004428
NM_001354617.2:c.413A>C