ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669518
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000561302
RCV000799502
ClinVar Variation:
482614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu1776Lys
CA382543034
NM_000051.4:c.5326G>A