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: PA891845295

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 572227

ClinVar RCV Id: RCV000693560 RCV001024861

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Gly2024Arg	CA382550088 NM_000051.4:c.6070G>A CA382550092 NM_000051.4:c.6070G>C