ClinGen Allele Registry
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Canonical Allele Identifier:
PA915973013
Gene: SORT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000972576
ClinVar Variation:
789875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002950.3:p.Asp358Tyr
CA989981
NM_002959.7:c.1072G>T