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: PA891844970

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 573294

ClinVar RCV Id: RCV000694931 RCV001191932 RCV001766498

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000042.3:p.Met557Val	CA382535109 NM_000051.4:c.1669A>G