ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741896870
Gene: SHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003019.2:p.Leu112Arg
CA193224576
NM_003028.3:c.335T>G