ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826323429
Gene: P3H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230175.1:p.Ala47Ser
CA802228
NM_001243246.2:c.139G>T