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: PA916032155

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 631417

ClinVar RCV Id: RCV000777628 RCV001227403

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Lys793Gln	CA382540996 NM_001351834.2:c.2377A>C