ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645505000
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
408249
ClinVar RCV:
RCV000479563
RCV000580976
RCV000819032
ClinVar Variation:
421983
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2850Ser
CA16619261
NM_000051.4:c.8549T>C