ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168534
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142501
ClinVar RCV Id:
RCV000131649
RCV000205840
RCV000236820
RCV000779764
RCV004551264
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser1601Asn
CA168532
NM_000051.4:c.4802G>A