ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091788
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420012
ClinVar RCV Id:
RCV000484938
RCV001378077
RCV003470551
RCV004023133
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly2063Glu
CA16619209
NM_000051.4:c.6188G>A