ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674085
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482604
ClinVar RCV Id:
RCV000566936
RCV003500558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn843Asp
CA382543523
NM_000051.4:c.2527A>G