ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA354808
Gene: CHKB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005189.2:p.Pro73Ser
CA249395
NM_005198.5:c.217C>T