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: PA916033752

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 648132

ClinVar RCV Id: RCV000802793 RCV002352367

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Cys2021Arg	CA382550044 NM_001351834.2:c.6061T>C