Canonical Allele Identifier: PA2827332416
Gene: OFD1 HGNC NCBI
ClinVar RCV:
RCV003805414
ClinVar Variation:
2942200
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317138.1:p.Met49Leu
CA412333089
NM_001330209.2:c.145A>C
CA412333093
NM_001330209.2:c.145A>T