ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091809
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220077
RCV000528764
RCV002247654
ClinVar Variation:
231789
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr2470Asp
CA10579258
NM_000051.4:c.7408T>G