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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:
PA2827904381
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41639
ClinVar RCV Id:
RCV000034545
RCV000075554
RCV000115472
RCV000121366
RCV000600229
RCV001082159
RCV001269371
RCV001798063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341555.1:p.Val358Met
CA008859
NM_001354626.2:c.1072G>A