ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA287008
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127454
ClinVar RCV Id:
RCV000115260
RCV000235110
RCV000779774
RCV000234753
RCV003467033
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2705Ile
CA287006
NM_000051.4:c.8113G>A