ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891845038
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
584487
ClinVar RCV Id:
RCV000708649
RCV001212700
RCV001536337
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser941Phe
CA382545791
NM_000051.4:c.2822C>T