ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658743072
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
490633
ClinVar RCV Id:
RCV000581541
RCV000819757
RCV003465302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Phe1977Ser
CA6265807
NM_000051.4:c.5930T>C