ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830028356
Gene: ATOSB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3131189
ClinVar RCV Id:
RCV004425569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079458.2:p.Leu463Pro
CA373341996
NM_025182.2:c.1388T>C