ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA336036
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216223
ClinVar RCV Id:
RCV000195924
RCV003372650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro2029Leu
CA336034
NM_000051.4:c.6086C>T