ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286857
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127392
ClinVar RCV Id:
RCV000115197
RCV000122849
RCV000212017
RCV000590782
RCV001281009
RCV001355381
RCV001250427
RCV001798316
RCV004549553
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr1475Cys
CA286855
NM_000051.4:c.4424A>G