ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190574
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000164299
RCV000235707
RCV000476746
RCV002247564
RCV003325192
ClinVar Variation:
184953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg982His
CA190572
NM_000051.4:c.2945G>A