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: PA658801310

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 524307

ClinVar RCV Id: RCV000627994 RCV000772578

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Lys892Asn	CA382545121 NM_000051.4:c.2676G>C CA382545123 NM_000051.4:c.2676G>T