ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286863
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127394
ClinVar RCV Id:
RCV000115199
RCV000122851
RCV000212021
RCV000586056
RCV001197709
RCV001354496
RCV001798317
RCV004549555
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1570Ala
CA286861
NM_000051.4:c.4709T>C