ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580241091
Gene: SHOC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002261468
ClinVar Variation:
1693569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365140.1:p.Arg1489His
CA5188036
NM_001378211.1:c.4466G>A