ClinGen Allele Registry
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Canonical Allele Identifier:
PA234528
Gene: PEX14
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
177186
ClinVar RCV:
RCV000153678
RCV001211203
RCV003330512
ClinVar Variation:
167451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004556.1:p.Ser275Leu
CA234527
NM_004565.3:c.824C>T