ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031926
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132800
ClinVar RCV:
RCV000115147
RCV000120119
RCV000122824
RCV000590282
RCV001197813
RCV001356948
RCV001374543
RCV001798309
RCV004549541
ClinVar Variation:
127343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro604Ser
CA157068
NM_001351834.2:c.1810C>T