ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629851
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181942
ClinVar RCV Id:
RCV000258119
RCV001093019
RCV001175687
RCV003137690
RCV001355020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Met1Val