ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501693
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231546
ClinVar RCV Id:
RCV000221075
RCV000524647
RCV000481285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys1114Arg
CA10579099
NM_000051.4:c.3341A>G