ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829459806
Gene: OFD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Ser165Leu
CA10351619
NM_003611.3:c.494C>T