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: PA2825033965

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 1380599

ClinVar RCV Id: RCV001892334

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly1788Val	CA382543368 NM_000051.4:c.5363G>T