Canonical Allele Identifier: PA2827333551
Gene: OFD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11537
ClinVar RCV Id: RCV000012293

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317139.1:p.Ser295Arg
CA341099
NM_001330210.2:c.883A>C
CA412342708
NM_001330210.2:c.885T>A
CA412342710
NM_001330210.2:c.885T>G