ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174766
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_112195.2:p.Thr294Lys
CA174765
NM_030933.4:c.881C>A