ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157081
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133608
ClinVar RCV Id:
RCV000120124
RCV000159695
RCV000168026
RCV001250428
RCV001356154
RCV000656758
RCV004551177
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp817His
CA157079
NM_000051.4:c.2449G>C