ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286827
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127380
ClinVar RCV Id:
RCV000122846
RCV000115185
RCV000212008
RCV000586490
RCV001535806
RCV001358328
RCV003492457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1356Asp
CA286825
NM_000051.4:c.4066A>G