ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031857
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495386
ClinVar RCV Id:
RCV000589833
RCV001012576
RCV001853968
RCV003459451
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val551Phe
CA382534551
NM_001351834.2:c.1651G>T