ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA190824
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185031
ClinVar RCV Id:
RCV000164384
RCV000218574
RCV000526201
RCV001193062
RCV003467294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro424His
CA190822
NM_000051.4:c.1271C>A