ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA197809
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167236
RCV000819663
RCV003444209
ClinVar Variation:
187501
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu615Pro
CA197807
NM_000051.4:c.1844T>C