ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827629850
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000169261
RCV000215466
RCV000223021
RCV004020015
RCV004440277
ClinVar Variation:
188901
3148372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Met1Ile