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: PA166036

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 141649

ClinVar RCV Id: RCV000130246 RCV001216788

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Glu586Val	CA166034 NM_000051.4:c.1757A>T