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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:
PA2827886103
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41635
ClinVar RCV Id:
RCV000034540
RCV000075343
RCV000115466
RCV000212543
RCV000987183
RCV001080084
RCV003934879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341544.1:p.Pro340Leu
CA006663
NM_001354615.2:c.1019C>T