Canonical Allele Identifier: PA2741939117
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2663437
ClinVar RCV Id: RCV003442625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036441.2:p.Gly1750Arg
CA381675957
NM_012309.5:c.5248G>C
CA381675959
NM_012309.5:c.5248G>A