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: PA2825035001

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1504232

ClinVar RCV Id: RCV002047748 RCV003150478

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.His2254Tyr	CA382555336 NM_000051.4:c.6760C>T