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: PA2825031208

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 927891

ClinVar RCV Id: RCV001191463 RCV001219750

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Ile559Met	CA382535142 NM_000051.4:c.1677A>G