ClinGen Allele Registry
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Canonical Allele Identifier:
PA214639
Gene: SHANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036441.2:p.Met1717Ile
CA214637
NM_012309.5:c.5151G>A
CA6160760
NM_012309.5:c.5151G>C
CA381676287
NM_012309.5:c.5151G>T