ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830099645
Gene: HYAL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
346084
ClinVar RCV Id:
RCV000306538
RCV000675874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149349.2:p.Thr392Met
CA2415716
NM_033159.4:c.1175C>T