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: PA916031842

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 819680

ClinVar RCV Id: RCV001012446 RCV003467602 RCV001860710

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys541Tyr	CA382534497 NM_001351834.2:c.1622G>A