ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033989
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246421
ClinVar RCV Id:
RCV000236528
RCV000571895
RCV000686103
RCV002494680
RCV002465602
RCV003469189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2185Thr
CA6265969
NM_001351834.2:c.6554T>C