ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742033721
Gene: SIMC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2618809
ClinVar RCV Id:
RCV004359589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940969.3:p.Tyr85His
CA362245506
NM_198567.6:c.253T>C