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: PA2825032091

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1438207

ClinVar RCV Id: RCV001948917 RCV002441079

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu950Pro	CA382546719 NM_000051.4:c.2849T>C