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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:
PA2825036234
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987841
ClinVar RCV Id:
RCV001269199
RCV001304784
RCV002436988
RCV003153970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr2791His
CA228364904
NM_000051.4:c.8371T>C