ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504334
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230098
ClinVar RCV Id:
RCV000218643
RCV000236137
RCV000628082
RCV004547528
RCV000764948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2691His
CA10579281
NM_000051.4:c.8072G>A