ClinGen Allele Registry
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Canonical Allele Identifier:
PA916033982
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
398310
ClinVar RCV:
RCV000473719
RCV003985356
ClinVar Variation:
407515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Gln2177Pro
CA16613415
NM_001351834.2:c.6530A>C