ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032937
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115185
RCV000122846
RCV000212008
RCV000586490
RCV001358328
RCV001535806
RCV003492457
ClinVar Variation:
127380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1356Asp
CA286825
NM_001351834.2:c.4066A>G