ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157206
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132928
ClinVar RCV:
RCV000115277
RCV000120169
RCV000586032
RCV000988648
RCV001262803
RCV001798328
RCV002225327
ClinVar Variation:
127471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ser333Phe
CA157204
NM_000051.4:c.998C>T