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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:
PA2825031166
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945658
ClinVar RCV Id:
RCV001216345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys541Arg
CA382534495
NM_000051.4:c.1621T>C