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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:
PA2825031204
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2176305
ClinVar RCV Id:
RCV002582319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys556Glu
CA382535096
NM_000051.4:c.1666A>G