ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196088
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186867
ClinVar RCV Id:
RCV000166521
RCV000168468
RCV000586878
RCV000855628
RCV003468785
RCV003483545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2335Ile
CA196086
NM_000051.4:c.7004C>T