ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670562
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449346
ClinVar RCV Id:
RCV000521492
RCV001386702
RCV001026887
RCV003319205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2622Val
CA382561402
NM_000051.4:c.7865C>T