ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825035824
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
827297
ClinVar RCV Id:
RCV001026890
RCV003329366
RCV003467693
RCV003605728
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu2623Phe
CA382561405
NM_000051.4:c.7867C>T