ClinGen Allele Registry
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Canonical Allele Identifier:
PA915958531
Gene: HEXB
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000004078
RCV000079063
RCV000336190
RCV000675618
ClinVar Variation:
3874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000512.2:p.Lys121Arg
CA116481
NM_000521.4:c.362A>G