ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279016
Gene: FA2H
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213640
ClinVar RCV:
RCV000199368
ClinVar Variation:
216927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077282.3:p.Pro173Ser
CA279015
NM_024306.5:c.517C>T