ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504120
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232996
ClinVar RCV Id:
RCV000222168
RCV001833226
RCV003469063
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2625Ala
CA10579272
NM_000051.4:c.7874A>C