ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828747139
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_001365140.1:p.Glu206Gln
CA374513214
NM_001378211.1:c.616G>C