ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031950
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142224
ClinVar RCV Id:
RCV000131223
RCV000203692
RCV000587634
RCV001530924
RCV003467169
RCV004551262
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn619His
CA167802
NM_001351834.2:c.1855A>C