ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845242
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
570256
ClinVar RCV Id:
RCV000691077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1841Ile
CA382545799
NM_000051.4:c.5521G>A