ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167650
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000131127
RCV000205686
RCV000585220
RCV001328457
ClinVar Variation:
142162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1006Val
CA167648
NM_000051.4:c.3016A>G