ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503268
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426534
ClinVar RCV Id:
RCV000489997
RCV000546553
RCV000569421
RCV000780900
RCV003316640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser1878Leu
CA6265741
NM_000051.4:c.5633C>T