ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298364
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159767
RCV000213785
RCV000539303
RCV001194329
ClinVar Variation:
181998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1619Lys
CA298362
NM_000051.4:c.4856G>A