ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502843
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000213546
RCV000824580
ClinVar Variation:
233648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1526Ser
CA10579155
NM_000051.4:c.4576C>T