ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580490445
Gene: FCHSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2385449
ClinVar RCV Id:
RCV004224167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_258260.1:p.Glu256Ala
CA3480842
NM_033449.3:c.767A>C