ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658735927
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489566
ClinVar RCV Id:
RCV000579727
RCV000821860
RCV001569149
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser2Asn
CA382518922
NM_000051.4:c.5G>A