ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741948718
Gene: CHSY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055733.2:p.Val17Ile
CA393971912
NM_014918.5:c.49G>A