ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031728
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003500256
ClinVar Variation:
2761704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser794Thr
CA382541023
NM_000051.4:c.2381G>C