ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500535
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000474844
RCV002418372
RCV003235223
ClinVar Variation:
407636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile665Val
CA16613020
NM_000051.4:c.1993A>G