Canonical Allele Identifier: PA2827333863
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463453
ClinVar RCV Id: RCV000545002 RCV004023911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317139.1:p.Leu535Phe
CA10351920
NM_001330210.2:c.1605G>T
CA412344352
NM_001330210.2:c.1605G>C