ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501146
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000232136
RCV000479651
RCV000574247
RCV002503882
RCV003238746
RCV004547575
ClinVar Variation:
236692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp860Val
CA6265063
NM_000051.4:c.2579A>T