ClinGen Allele Registry
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Canonical Allele Identifier:
PA645468170
Gene: SHANK3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000454654
RCV001712414
RCV001807254
RCV002311766
ClinVar Variation:
403431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277052.1:p.Ile245Thr
CA10325308
NM_033517.1:c.734T>C