ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334282
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188194
ClinVar RCV Id:
RCV000168111
RCV000220668
RCV000478130
RCV000780906
RCV003468825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys1435Thr
CA334280
NM_000051.4:c.4304A>C