ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033821
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420012
ClinVar RCV Id:
RCV000484938
RCV001378077
RCV003470551
RCV004023133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gly2063Glu
CA16619209
NM_001351834.2:c.6188G>A