ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503589
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230152
ClinVar RCV Id:
RCV000216689
RCV000543617
RCV001251347
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr2019Cys
CA10579205
NM_000051.4:c.6056A>G