ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741904081
Gene: OFD1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003794167
ClinVar Variation:
2937537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003602.1:p.Met2Val
CA412330999
NM_003611.3:c.4A>G