ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA194189
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186221
ClinVar RCV Id:
RCV000165775
RCV000205267
RCV000590569
RCV000764937
RCV002225485
RCV003387784
RCV003474869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2179Met
CA194187
NM_000051.4:c.6537T>G