ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157179
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133635
ClinVar RCV Id:
RCV000120160
RCV000214426
RCV000231221
RCV000656763
RCV002225366
RCV004551180
RCV003315730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2663Ala
CA157177
NM_000051.4:c.7988T>C