ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169421
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142791
ClinVar RCV Id:
RCV000132208
RCV000255899
RCV000559678
RCV003162592
RCV003149912
RCV003230416
RCV003467191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2708Asn
CA169419
NM_000051.4:c.8122G>A