ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298256
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181960
ClinVar RCV Id:
RCV000159727
RCV000204984
RCV000587149
RCV001250435
RCV001268973
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1575His
CA298254
NM_000051.4:c.4724G>A