ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825366473
Gene: CHIA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035713.1:p.His108Tyr
CA1003598
NM_001040623.3:c.322C>T