ClinGen Allele Registry
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Canonical Allele Identifier:
PA645502952
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000456711
RCV000571141
RCV002473013
RCV003230499
ClinVar Variation:
407499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp1637Gly
CA6265583
NM_000051.4:c.4910A>G