ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825032802
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003501321
ClinVar Variation:
2711120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr1252Ser
CA382524244
NM_000051.4:c.3755A>C