ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097754
Gene: HYAL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149348.2:p.Pro250Leu
CA2416244
NM_033158.5:c.749C>T