ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658801256
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000628148
RCV001190867
RCV003153765
RCV003317304
RCV004547764
ClinVar Variation:
524391
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met812Val
CA228399932
NM_000051.4:c.2434A>G