ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827141888
Gene: ADA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002041
RCV000059114
ClinVar Variation:
1964
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308979.1:p.Pro139Leu
CA115283
NM_001322050.2:c.416C>T