ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580293443
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1777203
ClinVar RCV Id:
RCV003097055
RCV004058175
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Gln550Leu
CA412343504
NM_003611.3:c.1649A>T