ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033034
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490567
ClinVar RCV Id:
RCV000582990
RCV001036202
RCV003465301
RCV003151107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile1441Val
CA382531821
NM_001351834.2:c.4321A>G