ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741915929
Gene: CHKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005189.2:p.Ser39Leu
CA325540906
NM_005198.5:c.116C>T