ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286808
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132827
ClinVar RCV:
RCV000115175
RCV000195412
RCV000211948
RCV000515264
RCV000588561
RCV001354149
RCV002225318
RCV004549547
ClinVar Variation:
127370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala112Thr
CA286806
NM_000051.4:c.334G>A