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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:
PA2827894785
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419842
ClinVar RCV Id:
RCV000586277
RCV001851173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341549.1:p.Ala297Val
CA16617912
NM_001354620.2:c.890C>T