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: PA916033777

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 417621

ClinVar RCV Id: RCV000464903 RCV001024909 RCV001224213

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Glu2039Val	CA16616706 NM_001351834.2:c.6116A>T