ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503638
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230576
ClinVar RCV Id:
RCV000215310
RCV003469007
RCV000815574
RCV002222447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2073Phe
CA10579214
NM_000051.4:c.6217C>T