ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193984
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186145
ClinVar RCV Id:
RCV000165683
RCV000203884
RCV000480887
RCV003468750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser421Pro
CA193982
NM_000051.4:c.1261T>C