ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298327
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181984
ClinVar RCV Id:
RCV000159752
RCV000628059
RCV001027026
RCV003467237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2666Asn
CA298325
NM_000051.4:c.7997C>A