ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157197
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
132685
ClinVar RCV Id:
RCV000119106
RCV000120166
RCV000131001
RCV000223988
RCV002225343
RCV001354360
RCV003315697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val182Leu
CA157195
NM_000051.4:c.544G>C