Allele Registry

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.

Canonical Allele Identifier: PA891845336

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 582959

ClinVar RCV Id: RCV000707159

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.His2254Pro	CA382555346 NM_000051.4:c.6761A>C