ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197276
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187295
ClinVar RCV Id:
RCV000167013
RCV001042093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2654Ile
CA197274
NM_000051.4:c.7961C>T