ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022646
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496858
ClinVar RCV Id:
RCV000596803
RCV003502538
ClinVar Variation Id:
619221
ClinVar RCV Id:
RCV000758203
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305754.1:p.Met1Leu