ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157212
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127332
ClinVar RCV Id:
RCV000119195
RCV000120171
RCV000115136
RCV000590142
RCV001356635
RCV004549538
RCV001798307
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val410Ala
CA157210
NM_000051.4:c.1229T>C