ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580272182
Gene: SHB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003019.2:p.Arg375Leu
CA5063464
NM_003028.3:c.1124G>T