ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355439
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220614
ClinVar RCV Id:
RCV000204614
RCV000218858
RCV003468957
RCV003483574
RCV004526643
RCV000484197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2798Asp
CA348832
NM_000051.4:c.8393C>A