ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801664
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
524376
ClinVar RCV Id:
RCV000628117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1785His
CA382543281
NM_000051.4:c.5354C>A