ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247198
Gene: PEX14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198515
ClinVar RCV Id:
RCV000179889
RCV000690356
RCV000764928
RCV002516805
RCV003917676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004556.1:p.Ala192Gly
CA247197
NM_004565.3:c.575C>G