ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825473224
Gene: SHOC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3161863
ClinVar RCV Id:
RCV004451209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001074020.3:p.Glu103Gln
CA374513214
NM_001080551.3:c.307G>C