ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580561680
Gene: CHIA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_970615.2:p.His269Tyr
CA1003598
NM_201653.4:c.805C>T