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: PA2499250956

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1002477

ClinVar RCV Id: RCV001298909

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Gly2024Trp	CA382550090 NM_001351834.2:c.6070G>T