ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA339539
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216025
ClinVar RCV Id:
RCV000200768
RCV001176540
RCV003468895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2662Asp
CA339537
NM_000051.4:c.7985T>A