ClinGen Allele Registry
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Canonical Allele Identifier:
PA658674123
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000563848
RCV000627857
RCV001770508
RCV003476327
ClinVar Variation:
481130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp860Gly
CA228406449
NM_000051.4:c.2579A>G