ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272354
Gene: OFD1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003602.1:p.Leu77Phe
NM_003611.3:c.231A>C
NM_003611.3:c.231A>T