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: PA2741866760

Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2587759

ClinVar RCV Id: RCV003350776 RCV003605869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001338763.1:p.Arg1249Ser	CA382524174 NM_001351834.2:c.3747A>C CA382524175 NM_001351834.2:c.3747A>T