ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828960066
Gene: SORBS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161502
ClinVar RCV Id:
RCV000149036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371379.1:p.Arg1317Pro
CA174153
NM_001384450.1:c.3950G>C