ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157070
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127343
ClinVar RCV Id:
RCV000120119
RCV000122824
RCV000115147
RCV000590282
RCV001374543
RCV001197813
RCV001798309
RCV001356948
RCV004549541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro604Ser
CA157068
NM_000051.4:c.1810C>T