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: PA2825035003

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1009840

ClinVar RCV Id: RCV001307391 RCV002366153

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu2255Phe	CA382555361 NM_000051.4:c.6763C>T