ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645294302
Gene: SHANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
305912
ClinVar RCV Id:
RCV000368364
RCV003409474
RCV002522203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Asp209Asn
CA6162095
NM_012309.5:c.625G>A