ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645497901
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
233900
ClinVar RCV:
RCV000213607
RCV000501575
RCV000556463
RCV001250443
RCV001548023
ClinVar Variation:
231354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr67Cys
CA6264536
NM_000051.4:c.200A>G