ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA167772
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142211
ClinVar RCV Id:
RCV000131203
RCV000236663
RCV000230833
RCV003462010
RCV004551261
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2443Gln
CA167770
NM_000051.4:c.7328G>A