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: PA2499251014

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1172453

ClinVar RCV Id: RCV001526322 RCV001873702

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Leu896Phe	CA382545165 NM_001351834.2:c.2686C>T