ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673628
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000573582
RCV001858236
ClinVar Variation:
482557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu364Ser
CA382532363
NM_000051.4:c.1091T>C