ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845348
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572261
ClinVar RCV Id:
RCV000693600
RCV000772397
RCV001356011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Trp2300Gly
CA382556936
NM_000051.4:c.6898T>G