ClinGen Allele Registry
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Canonical Allele Identifier:
PA163739
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
150565
ClinVar RCV:
RCV000129059
RCV000530097
RCV000587733
ClinVar Variation:
140851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr1556His
CA163737
NM_000051.4:c.4666T>C