ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827357153
Gene: SHCBP1L
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161777
ClinVar RCV Id:
RCV000149313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001332857.1:p.Thr175Lys
CA174765
NM_001345928.2:c.524C>A