ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091800
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3022
ClinVar RCV Id:
RCV000003158
RCV000581067
RCV000628126
RCV003230344
RCV003231072
RCV003460407
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe2827Cys
CA115928
NM_000051.4:c.8480T>G