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: PA2499251029

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_001338763.1:p.Leu2255Phe	CA382555361 NM_001351834.2:c.6763C>T