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: PA658801315

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 524337

ClinVar RCV Id: RCV000628050 RCV002431836

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu895Ile	CA382545154 NM_000051.4:c.2683C>A