ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113229
Gene: FA2H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30870
ClinVar RCV Id:
RCV000023855
RCV001797590
RCV002509169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077282.3:p.Arg235Cys
CA259927
NM_024306.5:c.703C>T