ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573170678
Gene: HEXB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000512.2:p.Arg505Pro
CA360071097
NM_000521.4:c.1514G>C