Canonical Allele Identifier: PA2499231981
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1024784
ClinVar RCV Id: RCV001325009
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Thr131Ala
CA413787290
NM_000390.4:c.391A>G