ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033698
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
397943
ClinVar RCV:
RCV000474790
RCV000568406
RCV001556379
RCV003470421
ClinVar Variation:
407560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1984Ser
CA16613163
NM_001351834.2:c.5950A>T