ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830360691
Gene: SHOC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2659431
ClinVar RCV Id:
RCV003430205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775792.5:p.Ser196Leu
CA5188946
NM_173521.5:c.587C>T