ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157209
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133643
ClinVar RCV Id:
RCV000120170
RCV000167222
RCV000234064
RCV000657017
RCV002288608
RCV003492519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val341Ile
CA157207
NM_000051.4:c.1021G>A