ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099440
Gene: HEXA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3895
ClinVar RCV Id:
RCV000004099
RCV000409695
RCV001800288
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000511.2:p.Arg504His
CA116497
NM_000520.6:c.1511G>A