ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022779
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3906
ClinVar RCV Id:
RCV000004112
RCV000169084
RCV001000970
RCV001508769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Arg515Cys
CA116503
NM_001318825.2:c.1543C>T