ClinGen Allele Registry
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Canonical Allele Identifier:
PA332344
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139474
ClinVar RCV:
RCV000122861
RCV000563677
ClinVar Variation:
135762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His192Asp
CA332342
NM_000051.4:c.574C>G