ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190695
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
183076
ClinVar RCV:
RCV000164338
RCV000231502
RCV000416278
RCV001535538
RCV002288733
RCV002509264
RCV004552886
ClinVar Variation:
184988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr39Ala
CA190693
NM_000051.4:c.115A>G