×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825034024
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1747626
ClinVar RCV Id:
RCV002349678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly1818Asp
CA382544242
NM_000051.4:c.5453G>A