ClinGen Allele Registry
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Canonical Allele Identifier:
PA294441
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152255
ClinVar RCV:
RCV000131731
RCV000206694
RCV000212067
RCV000764944
RCV001375519
RCV001535788
RCV003462021
RCV004551267
ClinVar Variation:
142541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg2461Cys
CA294439
NM_000051.4:c.7381C>T