ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032493
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115171
RCV000194529
RCV000515446
RCV000588986
RCV001079613
RCV001354960
RCV002291557
RCV003492454
RCV004549545
ClinVar Variation:
127366
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1005Ser
CA208751
NM_001351834.2:c.3014A>G