ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094994
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_116056.3:p.Ala212Pro
NM_032667.6:c.634G>C