ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355587
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000204970
RCV000567287
RCV000726329
RCV002478738
RCV003462391
ClinVar Variation:
220809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe1201Ile
CA349153
NM_000051.4:c.3601T>A