ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033318
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127397
ClinVar RCV Id:
RCV000115202
RCV000206394
RCV000561604
RCV001171473
RCV002490773
RCV003315637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala1670Val
CA286867
NM_001351834.2:c.5009C>T