ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139735963
Gene: PCCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339538.1:p.His269Tyr
CA388694399
NM_001352609.2:c.805C>T