ClinGen Allele Registry
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Canonical Allele Identifier:
PA645408723
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Ser1270Arg
CA4340719
NM_000466.3:c.3810T>A
CA4340720
NM_000466.3:c.3810T>G
CA368158385
NM_000466.3:c.3808A>C