ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA164518
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141117
ClinVar RCV Id:
RCV000129482
RCV000482081
RCV000529913
RCV001193060
RCV003467109
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met1210Val
CA164516
NM_000051.4:c.3628A>G