Canonical Allele Identifier: PA2828815981
Gene: SHANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 212170
ClinVar RCV Id: RCV000193590 RCV000963946
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.Met1338Ile
CA214637
NM_001379226.1:c.4014G>A
CA6160760
NM_001379226.1:c.4014G>C
CA381676287
NM_001379226.1:c.4014G>T