ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031795
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004521102
ClinVar Variation:
3232422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile826Phe
CA382543163
NM_000051.4:c.2476A>T