ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375605
Gene: FA2H
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320501
ClinVar RCV Id:
RCV000303256
RCV001171919
RCV001246003
RCV001848665
RCV002222486
RCV002522890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077282.3:p.Glu78Lys
CA8170617
NM_024306.5:c.232G>A