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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:
PA2499251074
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1297044
ClinVar RCV Id:
RCV001724780
RCV002361004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys2253Arg
CA382555322
NM_001351834.2:c.6758A>G