ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487555
Gene: BCHE
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000046.1:p.Gln207Ter
NM_000055.4:c.[618del;620A>T]
NM_000055.4:c.[618del;620A>T;622A>G]
NM_000055.4:c.619C>T