ClinGen Allele Registry
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Canonical Allele Identifier:
PA287044
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115274
RCV000198158
RCV000212098
RCV000780893
RCV001374551
RCV001535462
RCV002288591
RCV003492468
RCV004549574
ClinVar Variation:
127468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly3029Asp
CA287042
NM_000051.4:c.9086G>A