ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286774
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115161
RCV000211985
RCV001083203
RCV001174578
RCV002288588
ClinVar Variation:
127356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser877Thr
CA286772
NM_000051.4:c.2630G>C