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: PA658674163

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 482760

ClinVar RCV Id: RCV000569884 RCV000690607

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Leu927Phe	CA6265110 NM_000051.4:c.2781G>T CA382545566 NM_000051.4:c.2781G>C